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BIO 208 Worksheet Exam 42009

The review is not comprehensive

  1. Fill in the correct number:
  2. ______chromosomes in a human somatic cell
  3. ______human genomes in a single human cell
  4. ______types of transitions that can occur
  5. ______oligonucleotides that can be spotted on to a gene chip
  6. ______approximate number of cells in a blastocyst
  7. ______number of cells in a fertilized egg
  8. ______number of cells resulting from normal mitosis
  9. ______nucleotide bases in the human genome
  10. ______types of transversions that can occur
  11. ______chromosomes in an enucleate egg
  12. ______mutations in the beta globin gene that cause sickle cell disease
  13. ______oligonucleotides spotted on a microarray
  1. Match the mutation with the best answer A – J.

______occurs in sperm or eggA. point mutation

______occurs due to no particular agentB. any mutation

______occurs due to chemical or environmentC. spontaneous mutation

______does not result in an amino acid changeD. frameshift mutation

______causesthe protein to be too shortE. induced mutation

______shifts the reading frame of the messageF. silent mutation

______involves one DNA base onlyG. germinal mutation

______heritable change in DNAH. nonsense mutation

  1. Compare sequences # 1 and #2. Characterize each mutation (there are 4) as to position in the codon(1st, 2nd, or 3rd) and whether it is a transition (TS) or transversion (TV)

Sequence #1 ATG GGA CCT ACA TAT GCC

Sequence #2 (mutant) ATG GCA TTT ACA TAA GCC

  1. Characterize the mutations (a – e) using the following terms:

DeletionPoint mutationMissense mutation

Nonsense mutationFrameshift mutationTrinucleotide Repeat

a. TTC CAG AAA  TTC CAG CAG CAG CAG CAG CAG CAG CAG AAA

b. ACT TTT GTT AAT  ACT GTT AAT

c. AUG CAG AUU AAC GCU GCA UAA  AUG AGA UUA ACG CUG CAU
met gln ile asn ala ala stop met arg leu thr leu his

d. AUG CAG UCA AAC GCU GCA  AUG CAG UAA
met gln ile asn ala ala met gln stop

e. AUG GAC UCA GCU  AUG CAC UCA GCU

met gln ile asn met his ile asn

  1. What do the following acronyms stand for?

BRCA1SCNT

ESUV

SNPXP

TS and TVRB

DNA

  1. Are the following associated with SNP or a gene (choose one for each) ?
  1. 90% of all human genetic variation______
  2. 20,000 estimated in human genome______
  3. 3 million estimated in human genome______
  4. always coding DNA______
  5. often used in forensics______
  6. contains introns and exons______
  7. transcribed as a unit of mRNA______
  8. may not be responsible for disease but may be used as a genetic marker ______
  9. polymorphism ______
  10. contains a promoter______
  11. one causes sickle cell disease______
  1. Fill in the disease

Breast cancerColon cancer

Sickle cell diseaseSARS

Xeroderma pigmentosumRetinoblastoma

  1. extreme sensitivity to UV light______
  2. results from an SNP in 6th codon of beta globin gene ______
  3. infectious viral disease of the respiratory system______
  4. childhood cancer of the retina______
  5. causative agent found by microarray analysis______
  6. cannot be not inherited______
  7. misshapen red blood cells block capillaries ______
  8. mutation in a tumor suppressor gene______
  9. mutation in DNA repair pathway______
  10. involves mutation in p53 gene ______, ______
  11. polyp type tumor forms______
  1. Fill in usingthe appropriate letter

A. Human Genome ProjectD. PharmacogenomicsG. DNA polymorphism

B. Genetic predispositionE. Non-genetic factorsH. Personalized medicine

C. Oligonucleotide probeF. Presymptomatic testing

______the study of how an individual’s genetic inheritance affects the body’s response to drugs

______the ability to target a specific drug and dose to those individuals most likely to benefit

______An allele which may predispose an individual to a developing a particular disease

______A microarray test to test a person for disease before the development of noticeable disease symptoms

______Short single stranded DNA oligonucleotide complementary to sequence of interest

______Governmental and private effort to determine the sequence of 3 billion nucleotides of human DNA

______A small genetic change, or variation, that can occur within a person's DNA sequence

______Behavior, lifestyle, diet, physical activity that influence gene expression and disease progression

  1. Therapeutic or reproductive cloning or both?
  2. An organism is produced
  3. Has been conducted in cows, pigs, mice, cats, and sheep
  4. May be used to obtain cells to treat disease
  5. Uses an enucleate egg
  6. Does not use sperm
  7. Involves manipulation of a blastocyst
  8. Involves implantation of a blastocyst
  9. Fuses a somatic cell nucleus with an enucleate egg
  10. Needs a surrogate mother for success
  11. May result in large offspring syndrome
  12. Produces embryonic stem cells
  13. Creates animal models to study human disease
  14. Illegal
  15. Isolates pluripotent cells

 over

Cancer worksheet

1. Fill in

Benign Tumor suppressor proteinSporadic cancerChromosome 13

ApoptosisMetastasisFamilial cancerChromosome 17

OncogeneAngiogenesisDNA repair proteinProto-oncogene

a. ______A tumor releases a molecule that interacts with a blood vessel and promotes vascularization

b. ______A childhood eye cancer is initiated when two alleles of the RB gene are mutated after birth

c. ______Location of the BRCA 1 gene

d. ______A cancer forms in a connective capsule and is excised easily

e. ______A gene encodes a normal protein involved in cellular growth

f. ______A cell suffers DNA damage that is irreparable and is this pathway is initiated

g. ______An individual inherits one mutated allele and one normal allele of a tumor suppressor gene. The normal allele suffers a mutation sometime after birth and carcinogenesis is initiated

h. ______A child with xeroderma pigmentosum develops a number of malignant melanomas when this molecule is inactive

i. ______Location of the RB gene

j. ______The type of protein encoded by the RB, BRCA1, and TP53 genes

k. ______Movement of cancer cell from primary tumor through bloodstream to secondary location

l. ______A normal gene involved in cellular growth is mutated to this form

2. Discuss the following cellular situations

The cell cycle occurs too rapidly

A DNA repair enzyme gene is mutated

A tumor suppressor is overproduced

A growth factor receptor is overproduced

A cellular checkpoint is missed

A mutation in a growth factor gene causes too little growth factor to be produced

Angiogenesis is blocked

Apoptosis does not occur in an abnormal cell

Normal mitosis occurs

A cell becomes transformed

The RB gene promoter is nonfunctional due to a mutation

A knockout mouse has 2 copies of a non-functional p53 gene

A mouse is born with 1 functional copy of the p53 gene

3. Identify the appropriate cancer(s): Breast cancerColon cancerRetinoblastoma

  1. affects mammary tissue
  2. can be detected by colonoscopy
  3. pRB
  4. BRCA-1
  5. both alleles of a tumor suppressor gene are mutated
  6. may metastasize if not removed early
  7. polyps may form
  8. may inherit a predisposition (one mutant allele of a particular gene)
  9. usually occurs in children
  10. normal cell protein involved in eye development
  11. May also involve mutations in p53 gene
  12. Sporadic and familial forms
  13. Sometimes diet related
  14. Tumor excision may cure cancer